ClinVar for MedGen (Select 815301) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3892541	NM_001127496.3(SPRY4):c.766G>A (p.Gly256Ser)	SPRY4 (G256S +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GUncertain significance
Select item 3169424	NM_001127496.3(SPRY4):c.478G>A (p.Glu160Lys)	SPRY4 (E160K +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2582723	NM_001127496.3(SPRY4):c.278G>A (p.Ser93Asn)	SPRY4 (S116N +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 17 with or without anosmia	GUncertain significance
Select item 50875	NM_001127496.3(SPRY4):c.46G>A (p.Val16Ile)	SPRY4 (V16I +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 17 with or without anosmia	GPathogenic
Select item 50874	NM_001127496.3(SPRY4):c.653C>A (p.Ser218Tyr)	SPRY4 (S241Y +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 50873	NM_001127496.3(SPRY4):c.841G>A (p.Val281Ile)	SPRY4 (V304I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 50872	NM_001127496.3(SPRY4):c.461A>G (p.Lys154Arg)	SPRY4 (K177R +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity

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